To read our primer on Hemophilia, click here and to read our primer on von Willebrand click here.
These next three bleeding disorders – grouped under the header “Platelet Disorders” – are so rare that less than 1,000 cases have been reported worldwide.
And with so many other illnesses affecting hundreds of thousands of people, one might think this less-than-a-thousand-diagnoses statistic might render this spotlight a little excessive for these diseases.
But when it’s your child, or friend, or someone you know – it’s no longer just a statistic.
For the rarest of diseases, the spotlight is necessary, especially when there aren’t as many advocacy groups to help those diagnosed with finding help, resources, or just an outlet for relatability. So it’s important that we look at the less common and less talked about bleeding disorders.
A platelet disorder, simply defined, is a disorder where a person’s blood platelets do not work properly, resulting in improper or defective blood clotting.
And what are platelets exactly? Platelets are small cells that circulate in the blood and play a role not only in clotting of blood, but also in the repair of damaged blood vessels. When a blood vessel becomes damaged, platelets stick to the damaged area and spread along the surface to stop the bleeding. Chemicals are simultaneously released from small sacs inside platelets, called granules. These chemicals attract other platelets to the damaged blood vessel and make them clump together to form a platelet plug.
When platelets are comprised, so is the body’s ability to stop bleeding.
So, let’s dive into three types of platelet disorders.
What is it, in science-speak?
Bernard–Soulier syndrome (BSS), or hemorrhagiparous thrombocytic dystrophy, is when there’s a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor. Because this receptor is either absent or not functioning adequately, platelets do not stick to the damaged blood vessel wall the proper way, compromising the clotting process.
What is it, in a nutshell?
Those with BSS have abnormally large platelets, causing difficulty in the blood clotting process.
Symptoms?
- Bruising
- Gum bleeding
- Heavy or prolonged menstrual bleeding in women
- Nose bleeds
- Abnormal bleeding after medical procedures
What is it, in science-speak?
Glanzmann’s thrombasthenia is characterized as a blood disorder where platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. Fibrinogen converts to fibrin during the clotting process; fibrin forms strands of protein that bind to the platelets to help form the clot.
What is it, in a nutshell?
Those with Glanzmann’s have bad or low levels of a protein that helps create the fibrous material that clots blood.
Symptoms?
- Bruising
- Gum bleeding
- Heavy or prolonged menstrual bleeding in women
- Nose bleeds
- Abnormal bleeding after medical procedures
Platelet Storage Pool Deficiency Disorders
What is it, in science-speak?
Platelet storage pool deficiency disorders are a group of disorders characterized by defects in the granules in platelets. Recall that granules are small sacs inside platelets. Granules release chemicals that attract other platelets to the damaged blood vessel and make them clump together to form a platelet plug.
What is it, in a nutshell?
Those with a storage pool deficiency disorder either have a lack of granules or have platelets that fail to empty the contents of its granules into the bloodstream.
Symptoms?
- Bruising
- Gum bleeding
- Heavy or prolonged menstrual bleeding in women
- Nose bleeds
- Abnormal bleeding after medical procedures
